Research/Areas of Interest
CTNNB1 syndrome is a rare monogenetic disease caused by spontaneous, heterozygous loss-of-function variants in the gene CTNNB1, which encodes the protein β-catenin, notable for its important roles in cadherin-based synaptic adhesion complexes and the canonical Wnt signaling pathway. The primary manifestations of the disorder are intellectual disability, global developmental delays, motor impairments, and a spastic gait. I am focused on developing a novel AAV-based gene therapy to rescue the motor phenotype of CTNNB1 syndrome both in a mouse model and in myotubes derived from multiple different patient iPSC lines.
Education
BS, Biology & Linguistics, University of North Carolina at Chapel Hill, Chapel Hill, NC